ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828065155
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196275
ClinVar RCV Id:
RCV000177069
RCV002517708
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349711.1:p.Ala128Thr
CA243175
NM_001362782.2:c.382G>A